Τίτλος:
Hb Aghia Sophia [alpha 62(E11)Val -> 0 (alpha 1)], an “in-frame”
deletion causing alpha-thalassemia
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
In this report we describe a case of Hb H disease due to the interaction
of the - -((MED I)) deletion with a new alpha(+)-thalassemia
determinant. The molecular analysis of the proband’s genomic DNA was
carried out by polymerase chain reaction amplification and sequencing of
both alpha genes of the alpha(+)-thalassemia chromosome and revealed a
deletion of codon 62 of the alpha 1 gene. This DNA triplet codes for a
valine residue at the E11 alpha helix, which is located in the interior
of the heme pocket. Substitutions of valine E11 with other amino acid
residues in the alpha as well as beta polypeptide chains lead, in the
heterozygous carrier, either to Hb M disease or to congenital
non-spherocytic hemolytic anemia. We assume that the deletion of valine
at alpha 62(E11) disrupts the conformation of the alpha chain to such an
extent that the mutated subunit is rapidly removed by proteolysis. The
final result is an alpha-thalassemia phenotype rather than an unstable
hemoglobin syndrome. This conclusion is supported by the apparent
absence of an abnormal alpha chain in the peripheral blood of the
patient.
Συγγραφείς:
Traeger-Synodinos, J
Harteveld, CL
Kanavakis, E
Giordano, PC
and Kattamis, C
Bernini, LF
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Εκδότης:
Marcel Dekker Inc, New York, NY, United States
DOI:
10.3109/03630269909090747
